【摘要】 目的研究一个遗传性蛋白S(PS)缺陷症家系的表型诊断及基因特征。方法PS活性(PS:A)用发色底物法测定,PS抗原(PS:Ag)用ELISA方法测定。用PCR扩增PS基因各个外显子及侧翼序列,用直接测序法检测突变点。结果先证者的PS:Ag和PS:A分别为8·3mg/L和29%,均低于正常。基因检测发现在14号外显子Gln522(CAG)→Stop(TAG)。结论本家系PS基因在14号外显子Gln522(CAG)→Stop(TAG),为国内首次报道的一个新的基因突变。更多还原

【Abstract】 Objective To identify the mutation of a protein S(PS) deficiency pedigree. Methods PS antigen was assayed by ELISA. PS activity was determined by chromogenic substrate assay. All exons of PS gene was amplified by polymerase chain reaction(PCR), followed by DNA sequencing. Results PS antigen of the proband was 8.3 mg/L and PS activity was 29%. C to T change in exon 14 of the protein S gene was identified, resulting in a nonsense mutation. Conclusion A nonsense mutation Gln522stop in exon 14 of PS gene is a novel mutation in China.更多还原